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Article

HMSNL in a 13-year-old Bulgarian girl.

Neuromuscular disorders : NMD - 1 Apr 1998

Baethmann M, Göhlich-Ratmann G, Schröder J M, Kalaydjieva L, Voit T

Abstract excerpt

We present a 13-year-old Bulgarian girl with a new form of demyelinating neuropathy with hearing loss. The clinical and neuropathological features of the patient were similar to those of the recently described hereditary motor and sensory neuropathy type Lom (HMSNL), first identified in a large Bulgarian Gypsy population. Neuropathological examination of a peripheral nerve biopsy revealed an excess of nerve...

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Identifiers

PMID: 9608562
DOI: 10.1016/s0960-8966(98)00011-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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